List of variants reported as pathogenic for inborn disorder of serine family metabolism by Mendelics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)	rs386833566
NM_000170.3(GLDC):c.2838+1G>A	rs542056100
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)	rs386833585
NM_000481.4(AMT):c.478del (p.Val160fs)	rs1575305901
NM_000481.4(AMT):c.908del (p.Pro303fs)	rs1575303218

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